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Links from MedGen

Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FHOD3
(P452R)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy, familial hypertrophic, 28
GUncertain significance
FHOD3
Deletion
(inframe_deletion)
Cardiomyopathy, familial hypertrophic, 28
+1 more
GBenign/Likely benign
FHOD3
Single nucleotide variant
(splice acceptor variant)
Cardiomyopathy, familial hypertrophic, 28
GLikely pathogenic
FHOD3
(G356S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FHOD3
(V772F +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial hypertrophic, 28
GUncertain significance
FHOD3
(D310N)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial hypertrophic, 28
GUncertain significance
FHOD3
(R463W +1 more)
Single nucleotide variant
(missense variant)
FHOD3-related disorder
+2 more
GConflicting classifications of pathogenicity
FHOD3
(A1442S +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial hypertrophic, 28
GUncertain significance
FHOD3
(S366L)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial hypertrophic, 28
+1 more
GUncertain significance
FHOD3
(S635R +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial hypertrophic, 28
GUncertain significance
FHOD3
(S1029N +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial hypertrophic, 28
GUncertain significance
FHOD3
(K788R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FHOD3
(R462P +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial hypertrophic, 28
+1 more
GUncertain significance
FHOD3
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GUncertain significance
LOC130062385, FHOD3
(R27P)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial hypertrophic, 28
+1 more
GUncertain significance
FHOD3
(P1073R +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial hypertrophic, 28
GUncertain significance
FHOD3
(D1477G)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy, familial hypertrophic, 28
GUncertain significance
FHOD3
Single nucleotide variant
(splice donor variant +1 more)
Cardiomyopathy, familial hypertrophic, 28
GUncertain significance
FHOD3
(D58H)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial hypertrophic, 28
GUncertain significance
FHOD3
(R462W +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial hypertrophic, 28
GUncertain significance
FHOD3
(R339Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial hypertrophic, 28
GUncertain significance
FHOD3
(S563T +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial hypertrophic, 28
GUncertain significance
FHOD3
(S1043N +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial hypertrophic, 28
GUncertain significance
FHOD3
(R463Q +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial hypertrophic, 28
GUncertain significance
FHOD3
Deletion
Cardiomyopathy, familial hypertrophic, 28
GPathogenic
FHOD3
(S527del)
Deletion
(intron variant +1 more)
Cardiomyopathy, familial hypertrophic, 28
GPathogenic
FHOD3
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy, familial hypertrophic, 28
GLikely pathogenic
FHOD3
Single nucleotide variant
(splice donor variant +1 more)
Cardiomyopathy, familial hypertrophic, 28
GUncertain significance
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